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PPFIA4 mutation: A second hit in POLG related disease?
Epilepsy in POLG related disease usually involves biallelic recessive mutations causing chronic neuronal loss and neuronal death. However, monoallelic POLG mutations have been reported in patients with neurological features such as seizures [1]. In these patients a second allele/gene was anticipated...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8164014/ https://www.ncbi.nlm.nih.gov/pubmed/34095804 http://dx.doi.org/10.1016/j.ebr.2021.100455 |